Familial Adenomatous Polyposis in Four Patients: A Case Series Report

Abstract

Introduction: Familial adenomatous polyposis constitutes the predominant cause of hereditary polyposis colorectal cancer, resulting from functional loss of the APC tumor suppressor gene. This genetic alteration leads to the formation of numerous adenomatous polyps (ranging from dozens to thousands), primarily in the colorectum, carrying a 100% lifetime risk of colorectal cancer development.
Objective: To present a case series of four patients from a single family diagnosed with familial adenomatous polyposis, describing their initial clinical manifestations and diagnostic approaches, and emphasizing the critical importance of early detection in colorectal cancer prevention.
Methods: The index case was a 27-year-old female presenting with chronic abdominal pain and constipation; she had a family history indicative of familial adenomatous polyposis; therefore, comprehensive diagnostic tests were performed. Pedigree analysis identified three additional affected family members, two of whom exhibited extracolonic manifestations consistent with Gardner syndrome.
Results: Detailed family history and clinical progression were documented for all patients. Early identification enabled prompt initiation of treatment protocols, thereby reducing colorectal cancer risk. The genealogical analysis proved instrumental in identifying at-risk family members and implementing appropriate surveillance strategies.
Conclusion: Early diagnosis of familial adenomatous polyposis is crucial for optimizing prognosis through timely intervention and colorectal cancer prevention via appropriate management protocols.